성원재 교수

BACKGROUND: Progranulin (PGRN) haploinsufficiency due to progranulin gene (GRN) variants can cause frontotemporal dementia (FTD) with aberrant TAR DNA-binding protein 43 (TDP-43) accumulation. Despite microglial burden with TDP-43-related pathophysiology, direct microglial TDP-43 pathology has not been clarified yet, only emphasized in neuronal pathology. Thus, the objective of this study was to investigate TDP-43 pathology in microglia of patients with PGRN haploinsufficiency. METHODS: To desig

Objective: Neuronata-R® (lenzumestrocel) is an autologous bone marrow-derived mesenchymal stem cell (BM-MSC) product, which was conditionally approved by the Korean Ministry of Food and Drug Safety (KMFDS, Republic of Korea) in 2013 for the treatment of amyotrophic lateral sclerosis (ALS). In the present study, we aimed to investigate the long-term survival benefits of treatment with intrathecal lenzumestrocel. Methods: A total of 157 participants who received lenzumestrocel and whose symptom du

Abstract Background Neuronal primary cilia, vital for signaling and cell-cycle regulation, have been implicated in maintaining neuronal identity. While a link between primary ciliary defects and neurodegenerative diseases is emerging, the precise pathological mechanisms remain unclear. Methods We studied the genetic contribution of NEK1 to ALS pathogenesis by analyzing the exome sequences of 920 Korean patients with ALS. To understand the disease contribution of NEK1 variants in ALS, we performe

Abstract Increasing genetic evidence supports the hypothesis that variants in the annexin A11 gene (ANXA11) contribute to amyotrophic lateral sclerosis pathogenesis. Therefore, we studied the clinical aspects of sporadic amyotrophic lateral sclerosis patients carrying ANXA11 variants. We also implemented functional experiments to verify the pathogenicity of the hotspot variants associated with amyotrophic lateral sclerosis-frontotemporal dementia. Korean patients diagnosed with amyotrophic later

BACKGROUND AND PURPOSE: In this study we evaluated the relationship between amyloid-beta (Aβ) deposition and 3 aspects of sleep quality in a group of clinically diagnosed Alzheimer's disease (AD) patients. METHODS: We used self-report questionnaires to assess the quality of sleep using 3 previously established surveys: the Glasgow Sleep Effort Scale (GSES), the Pittsburgh Sleep Quality Index (PSQI), and the Morningness-Eveningness Questionnaire (MEQ). These questionnaires focused on the sleep ef

Vertebral artery dissection (VAD) is often associated with medullary infarction; however, an underlying cause may be underestimated. This study aimed to assess the diagnostic potential of hypointense signal lesions along the arterial pathways using susceptibility-weighted imaging (SWI) as a feasible indicator of VAD in medullary infarction. A retrospective analysis was conducted using clinical data, brain magnetic resonance imaging, and angiography records of 79 patients diagnosed with medullary

Background: Nitrous oxide (N2O) is used in surgery and dentistry for its anesthetic and analgesic effects. However, neurological and psychiatric manifestations of N2O abuse have been increasingly reported among Korean adults. The aim of this study was to demonstrate laboratory findings of N2O abuse in Korean patients.Methods: Patients diagnosed with N2O-induced neuropathy or myelopathy from August 2018 to December 2019 were enrolled. Their clinical presentations and laboratory and imaging findin

BACKGROUND: Hyperuricemia in patients with gout is associated with a low risk of neurodegenerative diseases, including dementia. However, the prevalence of dementia in patients with gout has not yet been reported. OBJECTIVE: To analyze the prevalence of dementia among patients diagnosed with gout by utilizing the Health Insurance and Review Assessment database, a nationwide registry of the South Korean population. METHODS: Data from the Health Insurance and Review Assessment database of patients

The coronavirus disease 2019 (COVID-19) pandemic has profoundly impacted vulnerable groups, such as patients with dementia. We examined changes in mortality and loss to follow-up in patients with dementia using data from the Korean National Health Insurance Service research database. Patients with dementia who visited a medical institution with a recorded dementia-related diagnostic code, including Alzheimer's disease, and who received anti-dementia medication between February 2018 and January 2

The TARDBP gene variant is a known major cause of amyotrophic lateral sclerosis (ALS), with limited reports of Korean patients with ALS harboring the variants in TARDBP. This large cohort study introduces four ALS patients who share the p.M337V variant of the TARDBP, allowing for an investigation of clinical characteristics and prognosis by analyzing previously reported cases with the same variant. From November 2014 to August 2022, participants were recruited from two tertiary hospitals in Seou

Understanding the impact of early vascular aging (EVA) on acute ischemic stroke (AIS) outcomes may provide new insights for improving prognostic assessments and developing targeted therapeutic strategies. This study aimed to validate the EVA ambulatory score (EVAAs) in AIS patients, assessing its association with stroke type, severity, and prognosis. Among the 2,730 AIS patients with a mean age of 72.0 ± 14.4 years, 83.4% exhibited EVA. EVA was identified as an independent predictor of poor outc

In conclusion, this study demonstrates that some subtests in the CIST-K align with corresponding scores on the K-MMSE-2. However, caution is advised when interpreting visuospatial and language test scores from the CIST-K. Further validity studies are necessary to enhance the sensitivity of each subtest.

Spontaneous spinal epidural hematoma (SSEH) is a nontraumatic condition that potentially compresses the spinal cord by accumulating blood in the epidural space. We report a case of multilevel SSEH in a 27-year-old male recreational weight lifter, presenting with acute lower back pain and bilateral leg weakness after deadlifts. Initial magnetic resonance imaging (MRI) showed subacute epidural hematomas with distinct signal intensities. The hematomas spanned multiple thoracic and lumbar levels wit